Previous GeneCards Identifiers for POLE Gene

Summaries for POLE Gene

Entrez Gene Summary for POLE Gene

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

Graphical View of Domain Structure for InterPro Entry

UniProtKB/Swiss-Prot:

The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.

Belongs to the DNA polymerase type-B family.

Domain:

The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.

The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.

UniProtKB/Swiss-Prot

Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. {ECO:0000269 PubMed:23263490, ECO:0000269 PubMed:24501277, ECO:0000269 PubMed:25860647, ECO:0000269 PubMed:27573199}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. {ECO:0000269 PubMed:23230001}. Note=The disease is caused by mutations affecting the gene represented in this entry.